Gaucher’s Disease ~ Rhyan Elliott, Tori Pollard, Kennedy Lorenzen

17215 Content_965_1171_1171_full Mallattia-di-GaucherHi, my name is Sarah and I was diagnosed with type 1 Gaucher Disease when I was only 2 years old. I just remember having a lot of nose bleeds for no reason, and one day my dad took me to the doctor’s office where I was diagnosed with Gaucher disease. I remember my mom crying a lot when my dad told her. I didn’t really understand. My dad told me the reason I have Gaucher is because I have a deficit of the enzyme glucocerebrosidase. I didn’t think much of it then. He would tell me 1 per 40,000 to 1 per 75,000 people had it, and said I was very special for that. He told me I would be okay. My doctor would always say, “People with Gaucher’s Disease have very low levels of enzyme activity.  Low levels of enzyme activity can be treated by enzyme replacement or in extreme cases, bone marrow transplant. Sometimes, doctors like myself, will check levels of the enzyme associated with the disease, and sometimes through genetic analysis.”

Gaucher disease is autosomal recessive meaning that both of my parents must have Gaucher Disease for it to be passed on. I then realized my parents both had it, and it never clicked for me. They had all the symptoms I did; they just didn’t want me to worry. Then I got terrible news in the middle of the school day in a February. My mother just died from Gauchers type 3. She died. I couldn’t believe it. I couldn’t go to school for weeks after she died, I was a mess. Fear quickly took over my life. That’s when it got worse for me. My bones ached more, and the nose bleeds became more consistent. I couldn’t sleep, which affected my grades majorly. I had to repeat sixth grade. I learned how to be more independent and take care of myself. I have recently been accepted into the college of William and Mary studying business ownership. I am going to make a business specified into helping people with Gaucher Disease.



Huntington’s Disease

Huntington’s Disease

By Jonathan Brat and Grace Blanton

A few months ago, my Dad was diagnosed with Huntington’s Disease. Over the summer, he realized that his body would involuntarily move, and would sometimes have strange tics happen with his muscles at random. Not only did it cause spasms in his limbs, but it would also cause him to have slurred speech and difficulty eating and swallowing. He decided to go to the Southern New Jersey Regional PKU Center and underwent some neurological and psychological tests. A genetic test was also conducted to find if he had inherited any disease.

The results came back, and he was astonished to find out that he actually had Huntington’s Disease. This is a trinucleotide repeat disorder in the fourth chromosome that affects the brain and how it functions. Even though it came as a surprise, it did explain his unusual jaw clenching, teeth grinding, and muscular contractions. He would sometimes lose coordination and balance, and end up stumbling or occasionally even falling. Apparently he got it from his mother. This made sense since the gene can be passed on autosomally. It also made sense that he hadn’t realized these abnormalities before, because the disease usually starts to affect a person in their thirties or forties.

This diagnosis was very hard for the entire family, since Huntington’s is such a serious and life threatening disease. In fact, most people die fifteen to twenty years after they are diagnosed. With that in mind, we must deal with this tragedy in the best way possible.

Every day, my dad takes a variety of medicines to help lessen the disease, but none can fully cure him.  Along with medication, he goes through many types of therapy.  He attends psychotherapy, speech therapy, physical therapy, and  occupational therapy.  His case is very severe, and he goes to at least two different therapies a week.

It was hard for me to see him suffer, and realized I needed more information on this disease to help me be there as much as possible for him.  Although many websites offered great facts about Huntington’s Disease, I found a website that helped me learn how to cope with my dad’s condition while learning more about what he is going through at the same time.  This website is can be found at

Since my dad has this disease, that means that I have a fifty percent chance of inheriting the disease as well. Now that I know about the symptoms and effects that this disease can have on me, I will be better prepared to face any problems that may arouse in a few years when I become middle-aged. When I researched this disease, I found out that I can use In Vitro Fertilization when getting a genetic test to make sure that my children do not also have this life-threatening disease.



Edward’s Syndrome–Hannah and Biz

This is a baby who has a cleft palette.

This is a baby who has a cleft palette.

This is the karyotype of a person’s DNA with Edward’s.

We received horrible news last night. When Eddie was born two days ago, we knew immediately that something was wrong. We knew from the ultrasounds that he would probably be small, but didn’t realize to what extent. He was underweight, with a large head that bulged in the back. He seemed fragile and weak, with difficulty breathing.  His cleft palate was obvious. His hands were clenched into fists, and his fingers overlapped. Most disturbing of all, he has webbed toes and his left foot is a club foot. The doctors tell us that he will not walk normally.
The doctors karyotyped a sample of his blood to confirm his diagnosis: Edward’s Syndrome. Eddie has an extra chromosome eighteen, and this one genetic mistake will affect the rest of his life. This defect appeared during meiosis. Although no testing has been done as of yet for the heart or kidney defects that are common with this syndrome, we are prepared for more bad news.

The doctors sat us down and talked with us about his prognosis. 50% of children born with this disorder to not live beyond their first week, and only 10% live to see their first birthday. However, 95% of fetuses with Edward’s Syndrome die before they’re born. This just shows how much of a fighter he is for surviving this long. The doctors told us how unusual it was for a male to have the syndrome, since most affected are girls.

There is no cure for this syndrome. We know that the cleft palate can be fixed through surgery, but many of the other symptoms can only be alleviated. His poor abdominal muscles will cause constipation and he will have motor skill problems. He may need to be fed through a tube, and will have to have regular ultrasounds of his stomach. Eddie is at more risk for infections and immune system issues than a healthy baby as well.

I’m devastated not only for Eddie but for my eldest son, JimmyJohn, who has been excitedly asking, “When’s the baby coming, Momma?” for the past month. He’s been talking about how much he’ll have fun playing with a baby brother, and now the odds are against Eddie even coming home from the hospital, let alone playing baseball.

I am trying to come to terms with this event in my life by learning as much as I can through resources such as and This website has stories from other parents with children with Edwards syndrome. It is also a great resource that has helped my husband and I make choices about Eddie. One thing that I have learned is that I am not to blame for this genetic defect. Our goal is to make him as comfortable as possible and celebrate his life while it lasts. The defects in his vital organs means that he will need professional care by doctors. One option is to send him to the University of Texas Health Science Center. Also, we can give him occupational therapy to help with his motor skills. In the end, we’re glad to have Eddie as long as we can and will be very sad to see him go.


My Best Friend Jack

By Kate VanDerzee and Jennifer Giese

Every year, there are 5,400 babies born with Down syndrome. My brother, Jack, was one of those 5,400.

On the day of Jack’s birth, my parents were scared. They had no idea he was different until five minutes after he was born, and my mom says that everything up until that point had been completely normal. There had been no signs detected that would indicate any sort of problem with Jack, so the news the doctor delivered was a shock, to say the least. The doctor had to explain to my parents that there had been complications, and that Jack had been born with a common chromosomal disorder called Trisomy 21. Trisomy 21 means that Jack has an extra 21st chromosome. My mom cried when she heard the news because she thought it was her fault. She thought that she hadn’t taken good enough care of herself before Jack came and that’s why he was born with Down syndrome. The doctors had to tell her that everything was going to be alright and that it wasn’t her fault, though her risk had been higher because she was over 35. The doctors knew how to take care of Jack, so they took him away to the CT Children’s Medical Center for a few extra days before he could come home. They made sure that Jack was healthy and normal for someone with his condition, and they told my parents about Jack’s disorder and how it would affect him for the rest of his life. It was an awful lot to take in at once, but my dad in particular was determined to know everything he could.

He read almost every book about Down syndrome within a week, and he spent hours talking to the doctors and trying to learn as much as he could. While he was learning, he explained what he knew to me. I was only four at the time, so he made sure everything was easy for me to understand. He told me about Down syndrome, the people that are affected by it, and how their lives are only a little different from everyone else’s. He told me that people with Down syndrome needed some extra help sometimes, and it would be my job to make sure Jack got what he needed once we started school. I learned about the health problems Jack might have, and that he would need regular check-ups to make sure everything was okay with his heart and thyroid. My dad explained that Jack would look and think a little differently from everyone else, how he would have stunted growth, shortened neck, flat nose, slanted mouth, small ears, and slanted eyes, as well as delayed cognitive ability. Even with all of this, my dad said that Jack would have a good life. He will live just as long as I will, and he will live well.

That was thirteen years ago. Now the two of us are in high school together. I’m a senior, and he’s a freshman. Most people would think that having someone like Jack in their family would be a burden, but these people forget that the joy Jack gives us overwhelms any trouble he might bring. He always makes us laugh and there is never a dull moment. Over the years we have become closer than most brothers ever do. We depend on each other for everything, and we hang out all the time. Jack likes to tell people that we’re a package deal, and it’s the truth. Jack’s Down syndrome is an obstacle, but the two of us face it together. Over the years there have been some good times and some bad times, but no matter what, I’m there for him and he’s there for me. I need him in my life. He is my best friend.

ds1 downsyndrome2

For more information on this disorder visit this website:

Life With Triple X Jessica Lim-Wilson and Cole Childress



Life With Triple X

Jessica Lim-Wilson and Cole Childress

Triple X affects 10% of all females. Living with Triple X is not life threatening, however, it does have side effects. Girls born with triple X will possibly have learning disabilities, slow developing, dyslexia, tall, small head, delayed motor skills, and a smaller IQ. These symptoms are not always evident in cases of triple X.
A friend of mine recently told me that they had triple X. She explained that her learning disabilities were a result of triple X. She also explained the process of how she found out about this chromosomal mutation. To be diagnosed she had to be tested first by getting a blood sample taken and there be a chromosomal analysis. She told me how her parents had been so worried and anxious while waiting for the results. When they were informed of how she had triple X she feared her life would never be normal again. However, she now says that in some ways it has affected her life positively. Living with Triple X has it’s hardships, but she has worked a long way to overcome them. She has learning disabilities and receives proper care for them like tutoring and a little extra help from her teachers. She said that even though it is considered a mutation she believes it’s a blessing in disguise because it has brought her and her family closer and she’s closer with her friends with whom she confides in with.
Living with Triple X may be difficult, but she makes it look so easy. There is no real medical treatment for it and she will have it for the rest of her life. Many people who have had it though, have grown to prospering people with families. The mutation is not hereditary and can not be passed down by mother or father, but happened because of an error in cell division called nondisjunction.

Fragile X- Sowers, Shamim

Our friend Jenny has had a three year old son, Harry, who has been diagnosed to be abnormal. It was very shocking to find this out as we have known Harry since he was born, and never thought that such a thing would be found in him.

We have all noticed that he has unusual features; his ears are peculiarly large, and his face extends to an abnormal length. Also, we noticed that he started to crawl significantly later than other children his age. Although many infants have soft skin, for Harry, he is likely to have soft skin not only because of his infancy, but because of this condition. His joints are unusually flexible and his muscles lack the regular tone that other, regular children have. He also has a bigger forehead than people normally do, and a prominent jaw.

Unfortunately, based on these symptoms and further diagnosis, Harry’s doctors have come to the conclusion that he has Fragile X, which does not have any treatment; however, Harry can be helped towards education with specialized training. Last week, Harry’s parents had his doctor conduct a blood test with his blood; the blood was analyzed to have the FMR1 gene, which indicated Harry having the disorder, Fragile X. This disorder occurred because of a gene mutation in Harry’s X chromosome. Harry is likely to develop behavior problems, which can negatively affect him in school; behaviors that we have witnessed from Harry include hand biting, which is a common symptom of Fragile X. ADD is an example of a behavioral problem that Harry may have. We hope that Harry’s behavioral problems do not greatly affect his learning in school, and that he is successfully able to learn and perform efficiently. There may be specialized people appointed to work with people with Harry if needed, and give him support in learning and performing in school.

While currently there is no cure for Fragile X, there are a number of treatment centers that work with supporting people with this disorder. An example of a treatment center is the Cincinnati Fragile X Research and Treatment Center located in Cincinnati, Ohio. Harry and Jenny live just ten minutes away from this center, which makes it convenient for them. We ask and hope that all students respect Harry as well as others with disabilities and treat them rightfully and accordingly based on their special needs. As Harry is a male, he was more likely to develop the disorder than if he were female, as males have a higher chance of having the disorder effective rather than females do;  the FMR1 genes are certain to be effective on males, but females with Fragile X  may not display behavioral problems, or show physical symptoms. We hope the best for Harry, and that he and his family live happily, despite him having Fragile X. Fragile_x_syndromfragile x

Turner Syndrome- Short and Degenhardt

Turner Syndrome
Marie Smith, my aunt, was diagnosed with Turner’s Syndrome in her adolescence. This was very hard for her family but especially her parents. Turner’s Syndrome affects 1 out of every 2500 girls in the United States. Her parents were very emotional when they found out she had Turner’s disease. Doctors can tell if a child has the syndrome because their 23rd chromosome is different in their karyotype. Turner’s is a chromosal mutation. Children can’t get it from being passed on because it 
happens when 2 X chromosomes are missing or incomplete. My aunt Marie’s X chromosomes were missing. The doctor’s diagnosed her because she had heart defects at birth and kidney problems a few years later. She also had a webbed neck, broad chest, and swelling in her hands and feet. She noticed that she looked different from the other kids in her grade and she felt excluded. She went to Emory Reproductive Center, which was a treatment center for Turner’s Syndrome. Marie was treated with a growth hormone to help her reach a normal height as a teenager. If she didn’t take the growth hormone, Marie could have only grown to the average height of women not treated who have Turner’s syndrome, which is 4 feet and 8 inches. My aunt also had to take various medications and have surgeries. Now, my aunt Marie still has kidney and heart problems, but she also developed high blood pressure, weight gain, and diabetes.imagesCAI2PRM8  imagesCAX3IOOL

Sickle Cell Anemia Amanda Turner and Sarah Kivett

My name is Katherine and I have been battling Sickle Cell Anemia for 15 years now. It has been hard on myself, family, and friends. I can still go out and do things but I am limited. It is important for me to adopt a healthy lifestyle, take steps to prevent and control complications, and learn ways to cope with pain. My parents, David and Lisa both were carriers of the disease and it was passed down to me. They don’t have to deal with the effects of sickle cell because they are only carriers of it. They are supportive but blame themselves everyday for giving me this horrible disease.

With this disease I have a hard time connecting with others because I know I am different from everyone else.  Neither of my two sisters have this disease and cannot understand the hardships. I have spent countless weekends at hospital while I know the other teenagers are out partying. The mental effects spread to my family and friends also. They hate to see me depressed all the time. I know I am blessed because other people are far off worse than I am.

Even with this disease, I have a high life expectancy. Males struggle with sickle cell more, so I am lucky I am a girl. Some symptoms are blood clots, which cause pain and are life-threatening, and I am more prone to illnesses like pneumonia. The main treatment for sickle cell is a bone marrow transplant, however, this only works for a small group of people. We tried this for myself, and it didn’t work. Severe sickle cell anemia can be treated with a medicine called hydroxyurea. This medicine causes your body to make fetal hemoglobin, the same type of blood a newborn has. This can help prevent red blood cells from sickling and improves anemia. This disease is a gene mutation that occurs on the 11th chromosome. A treatment center that I have visited many times is Center of Excellence in Sickle Cell Disease at Boston University. They use arginine as a treatment as well. They have helped me get through a lot. They gave me the medicine hydroxyurea, which has made the symptoms less painful for me.

 Right now, I am feeling the best I have ever been. I am healthy but still cautious of all the symptoms and complications. I am participating in many activities and have a stable relationship with my family and friends.      sicklecellsickle-cell1

Living with Cri-du-chat

Living with Cri-du-chat
By Matthew Sasser and Harrison Grandpre

My child, John, was diagnosed with Cri-du-chat as a baby, 13 years ago.  He has never lived his life without this disorder, so he does not know what it is like to live a normal life.
My husband and I thought something was wrong with our child when he started emitting high-pitched sounds, similar to that of a cat.  He was also unusually small at birth, and his eyes were positioned at a downward slant.
We were worried, so we went  back to the hospital.  The doctors ran a FISH-metaphase test, which determined that our child had cri-du-chat. The FISH-Metaphase test is used to identify specific chromosomes through the attachment of fluorescently-labeled DNA probes which denatures chromosomal DNA. This means that this can determine if you have an extra chromosome or a missing chromosome, which in this case John did.  The test detected a missing part on the fifth chromosome.

I had never heard of the disease before, and was devastated when I heard the symptoms.  Intellectual disabilities, partial webbing of the hands and toes, slow motor skills, and wide-set eyes. Some other symptoms are heart defects, muscular and skeletal problems, hearing or sight problems and difficulty with talking or walking.  These were problems that were going to affect John for the rest of his life.  It was unknown at the time whether he could later care for himself.  That depended on the impact of his intellectual disabilities, and we are still not sure about his future.

I also discovered that there is no treatment, only therapy for his motor skills.  The doctor told us that many with cri-du-chat can eventually learn verbal skills and communicate effectively. However, this is not easy to accomplish.  Surgical correction would be necessary for his cardiac area late in his life.  Genetic testing was another possibility we could use on our child.  There is a 6 to 8% mortality rate for cri-du-chat.

His whole life will be affected by this disease.  For more information on Cri-du-chat go to,


Charlie Hines and Sami Parrish Tay-Sachs

I just got back from the doctor’s office, and they found a spot in the macula of my son’s eye. They said he might have Tay Sachs disease! I did some research and found out some of the symptoms: deafness, blindness, seizures, loss of motor skills, irritability, trouble swallowing, and decreased muscle tone. He also said that my son will die at a very young age. Oh, my poor baby!
I talked to his doctor about treatment and he told me that there was no treatment. He did tell me that my son could control the symptoms by taking medication and have techniques to keep the airway open. He also said that the treatments for my son’s disease also focuses on lifestyle and care issues including feeding and proper nutrition. His doctor also told my husband and I the long term effects of Tay-Sachs disease. He told us about a support group that may be helpful, called the Cure Tay-Sachs Foundation.
After I had some time to calm down, I asked him some more questions about Tay-Sachs. Apparently, it is caused by a genetic mutation in his HEXA gene on the 15th chromosome. Normally, the HEXA gene would break down fatty acids in nerve cells. However, with the mutated HEXA gene, the fatty acids will accumulate to toxic levels in the brain and spinal cord. The doctor said that it is passed on when both parents giva a faulty HEXA gene to the child. If only one parent gives the child a bad HEXA gene, then the child will be healthy. I guess that my husband and I both only had one abnormal HEXA gene, so we were not affected by Tay-Sachs. He also said that this is very common in the Ashkenazi Jewish population; 1 in every 27 people from the Ashkenazi Jewish population has the disease.